OTUD6B

OTUD6B
Identifiers
Aliases	OTUD6B , DUBA-5, DUBA5, CGI-77, OTU domain containing 6B, IDDFSDA, OTU deubiquitinase 6B
External IDs	OMIM: 612021; MGI: 1919451; HomoloGene: 6064; GeneCards: OTUD6B; OMA:OTUD6B - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8q21.3 Start 91,070,196 bp [1] End 91,087,095 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 A1 Start 14,809,498 bp [2] End 14,826,587 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve pancreatic epithelial cell Achilles tendon mucosa of paranasal sinus corpus callosum epithelium of colon ventricular zone gastrocnemius muscle deltoid muscle ganglionic eminence Top expressed in morula muscle of thigh dentate gyrus of hippocampal formation granule cell right kidney spermatid proximal tubule epiblast embryo neural tube yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity cysteine-type peptidase activity hydrolase activity thiol-dependent deubiquitinase Cellular component eukaryotic translation initiation factor 4F complex Biological process proteolysis cell population proliferation protein deubiquitination negative regulation of translation proteasome assembly positive regulation of translation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51633 72201 Ensembl ENSG00000155100 ENSMUSG00000040550 UniProt Q8N6M0 Q8K2H2 RefSeq (mRNA) NM_001286745 NM_016023 NM_152812 RefSeq (protein) NP_001273674 NP_057107 NP_690025 Location (UCSC) Chr 8: 91.07 – 91.09 Mb Chr 4: 14.81 – 14.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene. ^[5]

OTUD6B is a functional deubiquitinating enzyme, a class of protease that specifically cleaves ubiquitin linkages, negating the action of ubiquitin ligases. OTUD6B, also known as DUBA5, belongs to a DUB subfamily characterized by an ovarian tumor domain (OTU). ^[5] OTUD6B function may be connected to growth and proliferation. ^{[6] [7]} This hypothesis is supported by a recent study indicating that OTUD6B knock out mice, obtained through exon 4 deletion, are subviable and smaller in size. ^[8] In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000155100 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040550 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: OTU domain containing 6B" . Retrieved 2011-08-30.
6. Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M (November 2016). "Deubiquitinase OTUD6B Isoforms are Important Regulators of Growth and Proliferation". Molecular Cancer Research. 15 (2): 117–127. doi:10.1158/1541-7786.MCR-16-0281-T. PMC   5290186 . PMID   27864334.
7. Xu Z, Zheng Y, Zhu Y, Kong X, Hu L (January 2011). "Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation". PLOS ONE. 6 (1): e14514. Bibcode:2011PLoSO...614514X. doi: 10.1371/journal.pone.0014514 . PMC   3022568 . PMID   21267069.
8. Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher (2017-04-06). "Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features". American Journal of Human Genetics. 100 (4): 676–688. doi:10.1016/j.ajhg.2017.03.001. ISSN   1537-6605. PMC   5384096 . PMID   28343629.

Further reading

• Xu Z, Zheng Y, Zhu Y, Kong X, Hu L (2011). "Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation". PLOS ONE. 6 (1): e14514. Bibcode:2011PLoSO...614514X. doi: 10.1371/journal.pone.0014514 . PMC   3022568 . PMID   21267069.
• Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC   310876 . PMID   10810093.
• Sowa ME, Bennett EJ, Gygi SP, Harper JW (Jul 2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC   2716422 . PMID   19615732.